Results 91 to 100 of about 3,419 (204)

Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson’s Syndrome: A Report of Two Cases

Case Reports in Orthopedics, 2018
Say-Barber-Biesecker-Young-Simpson’s syndrome is one of the Ohdo-like syndromes. It is a very rare congenital condition that is commonly defined by its main clinical features that are blepharophimosis, ptosis, mental retardation, and delayed motor ...
Meni Mundama, Serge Ayong, Renaud Rossillon   +2 more
doaj   +1 more source

Multimodality Imaging Of Torpedo Maculopathy With Swept-Source, En Face Optical Coherence Tomography And Optical Coherence Tomography Angiography. [PDF]

, 2016
PURPOSE: Multimodality image analysis of two cases of torpedo maculopathy. METHODS: Imaging with fundus photography, autofluorescence (AF), swept-source optical coherence tomography (OCT), en face OCT, and OCT angiography.
Keane, PA, Papastefanou, VP, Sagoo, MS, Vázquez-Alfageme, C   +3 more
core  

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Insuficiência ovárica prematura : análise da associação a outras falências endócrinas [PDF]

, 2011
Trabalho final de mestrado integrado em Medicina àrea científica de Ginecologia, apresentado à Faculdade de Medicina da Universidade de CoimbraA Insuficiência Ovárica Prematura caracteriza-se pela existência de uma disfunção primária do ovário que impede
Nunes, Ana Filipa Coutinho
core  

Structure, evolution and expression of the FOXL2 transcription unit [PDF]

, 2003
COCQUET, J, De Baere, Elfride, FELLOUS, M, GAREIL, M, PANNETIER, M, VEITIA, RA, XIA, X   +6 more
core   +2 more sources

Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case Report [PDF]

Introduction: Ohdo syndrome is a rare congenital disorder occurring in less than 1 in a million individuals, characterized by intellectual disability, craniofacial abnormalities, as well as appendicular abnormalities.
Burgo, Terence, Pollo, Brian Andrich
core   +2 more sources

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]

, 2007
De Baere, Elfride, Jitendra, Jethani, Nallathambi, Jeyabalan, Neethirajan, Guruswamy, Sundaresan, Periasamy, Usha, Kim   +5 more
core   +2 more sources

Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)

TNOA Journal of Ophthalmic Science and Research, 2021
Manpreet Singh, Arshiya Saini, Manpreet Kaur, Bhavna Singla   +3 more
doaj   +1 more source

An unusual case of ptosis [PDF]

, 2017
Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim.
K, Abhilash
core   +1 more source